ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter)

gnomAD frequency: 0.00002  dbSNP: rs768530578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242116 SCV001415183 pathogenic not provided 2024-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln526*) in the LZTR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LZTR1 are known to be pathogenic (PMID: 24362817, 25335493, 25480913, 25795793, 29469822, 30368668, 30442762, 30442766, 30481304, 30859559). This variant is present in population databases (rs768530578, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 967250). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002402766 SCV002710062 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-12-10 criteria provided, single submitter clinical testing The p.Q526* variant (also known as c.1576C>T), located in coding exon 14 of the LZTR1 gene, results from a C to T substitution at nucleotide position 1576. This changes the amino acid from a glutamine to a stop codon within coding exon 14. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is pathogenic for an increased risk of nerve sheath tumors and would be expected to cause autosomal recessive Noonan syndrome when present along with a second pathogenic or likely pathogenic variant on the other allele.

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